Scientists have pinpointed a new link between a particular gene and a rare form of dwarfism, opening the door to prenatal testing and paving the way for new approaches to treating common diseases such as osteoporosis.
Using a revolutionary method of gene mapping, researchers from the University of Queensland studied a family made up of two healthy parents and two daughters who both exhibited severe bone deformities and had grown to less than a metre in height.
Dwarfism can be caused by a variety of genetic abnormalities but the study revealed that both daughters, who suffered from the rare condition that resembled a known form of dwarfism (anauxetic dysplasia), had aberrations in one particular gene. That gene had not previously been linked to bone deformities.
“We were able to pinpoint what the disease gene was,” one of the lead researchers, Emma Duncan, told The Conversation.
Previous methods of gene mapping usually required many family members and several generations, she said.
“We have determined a completely novel type of dwarfism using just four people in the family and we were able to define what’s causing these children to be so profoundly affected.”
The genetic pathway they examined is critical to the way human bones are built, which means the discovery will help boost understanding of more common bone conditions such as osteoporosis.
“It sheds light on what helps us build good bones,” she said. “Many existing osteoporosis medications are good at targeting the processes that stop us losing bone but they don’t make a lot of difference in building bones back up again.”
“For the broader community, this discovery has highlighted new ways to consider how we might build stronger bones in patients in osteoporosis.”
The discovery also raises the possibility for this family of prenatal testing of the gene that the researchers have pinpointed.
The study was published in the journal PLoS Genetics.